Canonical Allele Identifier: CA4504642

Gene: ATP6V0A4

Linked Data

• ClinVar Variation Id: 2198452
• ClinVar RCV Id: RCV002629398 ; RCV003918940
• dbSNP Id: rs145939630
• ExAC: 7:138417691 G / A
• gnomAD v2: 7-138417691-G-A
• gnomAD v3: 7-138732946-G-A
• gnomAD v4: 7-138732946-G-A
• MyVariant Identifiers: chr7:g.138417691G>A (hg19) ; chr7:g.138732946G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138732946G>A , CM000669.2:g.138732946G>A	GRCh38
NC_000007.13:g.138417691G>A , CM000669.1:g.138417691G>A	GRCh37
NC_000007.12:g.138068231G>A	NCBI36
NG_008145.1:g.70251C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000310018.7:c.1839C>T MANE Select	ENSP00000308122.2:p.Leu613=
ENST00000478480.2:c.1065C>T	ENSP00000495261.1:p.Leu355=
ENST00000644341.1:c.1065C>T	ENSP00000495642.1:p.Leu355=
ENST00000645515.1:c.1839C>T	ENSP00000496421.1:p.Leu613=
ENST00000647427.1:c.732C>T	ENSP00000496259.1:p.Leu244=
ENST00000310018.6:c.1839C>T	ENSP00000308122.2:p.Leu613=
ENST00000353492.4:c.1839C>T	ENSP00000253856.6:p.Leu613=
ENST00000393054.5:c.1839C>T	ENSP00000376774.1:p.Leu613=
NM_020632.2:c.1839C>T	NP_065683.2:p.Leu613=
NM_130840.2:c.1839C>T	NP_570855.2:p.Leu613=
NM_130841.2:c.1839C>T	NP_570856.2:p.Leu613=
XM_005250393.1:c.1839C>T	XP_005250450.1:p.Leu613=
XM_005250394.2:c.1839C>T	XP_005250451.1:p.Leu613=
XM_005250394.3:c.1839C>T	XP_005250451.1:p.Leu613=
NM_020632.3:c.1839C>T MANE Select	NP_065683.2:p.Leu613=
NM_130840.3:c.1839C>T	NP_570855.2:p.Leu613=
NM_130841.3:c.1839C>T	NP_570856.2:p.Leu613=